C2748557[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065020	NM_001382567.1(STIM1):c.241G>T (p.Gly81Cys)	STIM1 (G7C +1 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency	GUncertain significance
Select item 1038109	NM_001382567.1(STIM1):c.792-3C>G	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance